Queer genetic counselor at Boston Children's Hospital, Rozalia Valentine, and lead prenatal genetic counselor at BillionToOne, Chelsea Wagner, discuss creating psychologically safe and inclusive environments, supporting access to equitable care and reproductive options, representation in family history collection, and resources and ways to support LBGTQ+ colleagues and patients,

Mentioned in this episode:

Rare Insights: Uncovering The Future Of Rare Disease Treatments

“Rare Insights” dive deeps into the complexities of rare diseases, exploring real-world insights from passionate industry leaders. Together, we navigate the unknowns and unlock the potential for groundbreaking treatments. Because in this journey, we’re all rare, sharing unique insights and experiences that drive innovation and progress. Learn more by searching for "Rare Insights" wherever you get your podcasts.

PhenoTips' Chief Technology Officer Dr. Orion Buske and Genomenon's Chief Scientific Officer Dr. Mark Kiel discuss current and future applications of AI in genomics, limitations to the application of AI in genomics, the role of AI in advancing precision medicine, and ethical, legal, and social implications of the application of AI in genomics.

Clinical Geneticist at Cincinnati Children's Hospital, Dr. Loren Peña, Medical Geneticist at Children’s Hospital Colorado, Dr. Austin Larson, and Assistant Professor of Pediatrics at the University of Michigan Health, Dr. Amanda Barone Pritchard, discuss challenges in current diagnostic journeys, the latest technological advancements, predictions for the future of genetic testing landscapes, and changes to the infrastructure required to improve diagnostic yield in pediatric genetics. Hosted by DNA Today's Kira Dineen.

Associate Director of Genetic Counseling at the Dana Farber Cancer Institute, Jill Stopfer, Senior Genetic Counselor at the University of Texas MD Anderson Cancer Center, Jessica Corredor, and Lead Genetic Counselor for Cancer Genetics at Genome Medical, Emily Nazar, discuss the latest technological advancements and changes to delivery models, barriers in hereditary cancer genetic counseling and methods to overcome them, strategies to prepare genetic counselors for the future, and methods to improve the accessibility of genetic counseling services in hereditary cancer genetic counseling. Hosted by DNA Today's Kira Dineen.

Clinical Geneticist at the Children’s Hospital of Philadelphia, Dr. Ian Campbell, Principal Investigator in the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital, Dr. Bimal Chaudhari, and Consultant in Clinical Genetics at Great Ormond Street Hospital, Dr. Ajith Kumar discuss the biggest challenges patients face in clinical genetic care, how to integrate feedback to improve patient care, and navigating systemic barriers to improve accessibility of care in clinical genetics. Hosted by DNA Today's Kira Dineen.

Clinical/Research Assistant Director of the Molecular Genetics Laboratory at Children’s Mercy Center for Pediatric Genetic Medicine, Dr. Ana Cohen, presents how Children’s Mercy’s Genomic Answers for Kids initiative uses PhenoTips software to find answers for children and families affected by rare diseases, as well as presenting cases solved by the Genomic Answers for Kids initiative. Hosted by PhenoTips COO and VP of Scientific & Medical Affairs. Watch the full presentation at https://phenotips.com/speaker-series/childrens-mercy-ending-diagnostic-odysseys.html

Co-Medical Director of the Clinical Cancer Genetics Program at MD Anderson Cancer Center, Dr. Banu Arun, and Chief of Breast Medicine Service at Memorial Sloan Kettering Cancer Center, Dr. Mark Robson, discuss the latest technological advancements in cancer genetics, expected barriers in the field, and methods to prepare practitioners for the future of cancer genetics. Hosted by DNA Today's Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/the-future-of-cancer-genetics.html

Associate Chief of Genetics and Genomics at Boston Children’s Hospital, Dr. Olaf Bodamer, Director of the Roberts Individualized Medical Genetics Center at the Children’s Hospital of Philadelphia, Dr. Ian Krantz, and Medical Geneticist at the Children’s Hospital of Colorado, Dr. Austin Larson, debate the application of whole genome sequencing in the clinic. Hosted by PhenoTips’ Chief Operating Officer Dr. Pawel Buczkowicz. Watch the full episode at https://phenotips.com/speaker-series/navigating-whole-genome-sequencing-in-the-clinic.html

Director of Children’s National Hospital’s Rare Disease Institute, Dr. Marshall Summar, President and CEO of Rady Children’s Institute for Genomic Medicine, Dr. Stephen Kingsmore, and Clinical Lead for Rare Disease at Genomics England, Dr. Ellen Thomas, discuss the latest advances in the quest to end the diagnostic odyssey for rare diseases. Hosted by PhenoTips’ Chief Operating Officer Dr. Pawel Buczkowicz. Watch the full episode at https://phenotips.com/speaker-series/advances-in-rare-disease-diagnosis.html

Chief of the Division of Medical Genetics at the University of Pittsburgh School of Medicine, Dr. Jerry Vockley, and President and CEO of Rady Children’s Institute for Genomic Medicine, Dr. Stephen Kingsmore, prepare clinicians and researchers for the future of pediatric genetics. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/the-future-of-pediatric-genetics.html

Chief Clinical Information Officer for Belfast Health and Social Care Trust, Dr. Shane McKee, discusses the role openEHR technology plays in transforming the ways patient care is delivered. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/role-of-openehr-in-transforming-patient-care.html

The Director of Genomic Interpretation for Genomics England, Dr. Damian Smedley, presents the role phenotype-aware analysis plays in improving diagnostic outcomes for individuals with rare conditions. Hosted by PhenoTips’ Chief Operating Officer Dr. Pawel Buczkowicz. Watch the full episode at https://phenotips.com/speaker-series/role-of-phenotyping-in-improving-diagnostic-outcomes.html

Professor and Director Emeritus of Geisinger’s Department of Genomic Health, Dr. Marc S. Williams, addresses the current shortcomings of EHR systems in the genomics age, barriers faced in expanding EHR systems to be compatible with genomic information, the role of EHRs in advancing genomic medicine, and ethical, legal, and social implications involved in incorporating genomic information into EHRs.

The UK’s first Academic Clinical Fellow in Genomic Medicine, Dr. John McDermott, presents the benefits, potential roadblocks, and solutions required to transition genomics into routine clinical practice. Hosted by PhenoTips’ Chief Operating Officer Dr. Pawel Buczkowicz. Watch the full episode at https://phenotips.com/speaker-series/integrating-genomics-into-routine-clinical-practice.html

Past President of the National Society of Genetic Counselors (NSGC), Amy Sturm, and Past President of the American Board of Genetic Counseling (ABGC), Erynn Gordon, draw on their decades of experience in genetic counseling to prepare genetic counselors for the fast approaching future of genetic counseling. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/the-future-of-genetic-counseling.html

Innovation specialist, Principal Genetic Counsellor, and Transformation Manager at Imperial College Healthcare NHS Trust, Demetra Georgiou, draws on her experience in service design and genetic counselling to discuss how genetic departments and staff can improve patient care. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/improving-the-patient-experience.html

Digital champion, pioneering researcher, and clinical geneticist, Dr. Charles Shaw-Smith, discusses the impact of digital tools on clinical genetics as well as his experience and insights championing the adoption of digital tools. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/digital-tools-in-genetics.html

A panel of genetic counselors and digital champions, including NSGC Digital Ambassador, Scott Weissman, Lead Consultant Genetic Counsellor at Cambridge University Hospitals NHS Foundation Trust, Dr. Amy Taylor, and Laboratory Genetic Counselor at Perkin Elmer Genomics, Andrew McCarty, discuss the impact of digital tools on their departments as well as their experience and insights championing the adoption of digital tools. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/adoption-of-digital-tools.htm

A panel of genetic counselors in leadership positions, including Co-Director of the Roberts Individualized Medical Genetics Center at the Children's Hospital of Philadelphia, Livija Medne, leader of the genetic counselling team at Guy’s and St. Thomas’ NHS Foundation Trust, Vishakha Tripathi, and Manager of the Laboratory Stewardship Program at Seattle Children’s Hospital, Jessie Conta, discuss the paths to leadership roles and the benefits of genetic counselors in management positions to all areas of healthcare. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/genetic-counselors-in-leadership.html

Precision medicine thought leader and founder of the groundbreaking Human Phenotype Ontology, Dr. Peter Robinson, presents insights on the importance of deep phenotyping for genomic analysis in precision medicine. Hosted by PhenoTips’ Chief Operating Officer Dr. Pawel Buczkowicz. Watch the full episode at https://phenotips.com/speaker-series/deep-phenotyping-in-precision-medicine.html

CEO and President of My Gene Counsel, decorated patient advocate, and thought leader, Ellen Matloff, discusses the evolving role genetic counselors play in precision medicine as genetic testing increases in frequency and accessibility. Hosted by DNA Today’s Kira Dineen. Watch the full episode at https://phenotips.com/speaker-series/evolving-role-of-genetic-counselors.html

Principal Investigator at the International Laboratory for Human Genome Research (LIIGH), UNAM, Dr. Claudia Gonzaga-Jauregui addresses challenges in improving the accessibility of rare disease care, barriers faced by medical professionals and patients, improving diversity in data sets and ethical considerations, and best practices in improving equitability of rare disease care.

International leaders in genomics, Dr. Eric Green, Dr. Julian Barwell, and Dr. Fiona Brinkman, discuss the optimal utilization and collection of genomic data, challenges to applying population genomics in clinical care, the ethical considerations of data sets and methods to improve diversity, advancing clinical care through delivery models, channels, and technologies, and best practices for leveraging population genomics in routine clinical care.

International genetic counselors, and LGBTQ+ community members, advocates, educators, and researchers, Dr. Jehannine Austin, Andy Cantor, Josephine Giblin, and Katie Gallagher, discuss protecting patients during times of unprecedented legislation, creating psychologically safe and inclusive environments, supporting access to equitable care, representation in family history collection, and resources and best practices to support LBGTQ+ colleagues and patients.

Tier 1 Canada Research Chair in Rare Disease Precision Health and primary investigator at the national Care4Rare Canada Consortium, Dr. Kym Boycott, presents the methods by which Care4Rare facilitates the translation of genome-wide sequencing technology, explains how Care4Rare and the All for One Precision Health Partnership supports data-sharing and facilitates research, illustrates the national data infrastructure built on PhenoTips technology for sharing data and matchmaking, and provides three cases solved by Care4Rare after facing 10+ years long diagnostic odysseys.

Genetic counselors with research interests in burnout, Erin Wadman and Brittney Johnstone, and experienced Lead Genetic Counsellor, Vishakha Tripathi, discuss the factors leading to burnout among genetic counselors, signs to guide self-identification of burnout, mitigation and coping strategies, as well as resources and methods to help support colleagues experiencing burnout. Hosted by DNA Today's Kira Dineen.

Leader in the development of interoperability standards and PhenoTips CEO, Dr. Orion Buske, and PhenoTips' Interoperability Specialist, Charles Keenan, discuss the ways in which PhenoTips is helping rare disease networks with the adoption of interoperability standards to integrate workflows, the role of interoperable data in improving diagnostic outcomes, the application of structured pedigree and phenotypic data in diagnosis, and recent rare disease projects across the US, UK, and Canada. Hosted by DNA Today's Kira Dineen.

Transgender patient advocate, Holden Bender Bernstein, hereditary cancer genetic counselor, Joanna Mercado, and prenatal genetic counselor, Marney Brillinger, discuss best practices to improve clinic experiences for transgender and gender non-conforming patients, gender-affirming family history collection, challenges to providing gender-affirming care in existing service delivery models, and education and advocacy in the genetics and genomics community. Hosted by DNA Today's Kira Dineen.

2024 recipient of the Natalie Weissberger Paul National Achievement Award from the NSGC, Laura Hercher, Associate Director of Genetic Counseling at the Dana-Farber Cancer Institute, Jill Stopfer, and Innovation Specialist and Chair of the British Society for Genetic Medicine, Demetra Georgiou, discuss the changing roles genetic counselors will play as genomics goes mainstream.

The international panel of genetic counselors discusses:

• Visions for genomic mainstreaming
• Changing roles of genetic counselors under mainstreaming
• Past, present, and future barriers to genomic mainstreaming
• Examples of current genomic integrations

An international panel of cancer genetic counselors with research and advocacy interests in LGBTQ+ affirming care, NHS Bristol’s Josephine Giblin, Dana-Farber Cancer Institute’s Diane Koeller, and Boston University School of Medicine’s Kimberly Zayhowski, discuss:

• Risk considerations for trans and gender diverse cancer genetic counseling patients
• Creating safe and inclusive environments in cancer genetic counseling
• Protecting patients during times of unprecedented legislation
• Resources and methods to support trans and gender diverse patients

Hosted by DNA Today's Kira Dineen.

Resources and further reading:

• Navigating sexual orientation and gender identity data privacy concerns in United States genetics practices
• NSGC Policy Statement: Distinguishing Sex and Gender to Reduce Harm
• TGD CanScreen Project
• Canadian Resource: Queering Cancer
• CoppaFeel: UK patient resource with gender based language selection

Erica Peacock, PhenoTips' in-house genetic counselor and Genetics Workflow Consultant, demonstrates the practical application of PhenoTips' pedigree software in a mock genetic counseling session featuring genetic counseling student, Ariel Modeste, as the "Patient". Following the mock genetic counseling session, DNA Today's Kira Dineen moderates and guides an audience Q&A addressing various aspects of PhenoTips' pedigree software.

Throughout the mock session and following discussion, Kira, Ariel, and Erica address:

• How the pedigree builder is used in genetic counseling practice
• The pedigree builder’s relationship to patient & family records
• Commonly asked questions about the pedigree builder considerations
• Tips & tricks for using the pedigree builder

Rare disease researchers and advocates, past and future organizers of the Undiagnosed Hackathon initiative, Helene Cederroth, Dr. Wendy van Zelst-Stams, Dr. Angelica Delgado Vega, Dr. Eric Klee, and Dr. Orion Buske, discuss the innovative annual Undiagnosed Hackathon events.

The international panel discuss:

• International barriers to rare disease diagnosis
• Global collaboration as a method to drive diagnosis
• Driving principals, goals, and outcomes of the Undiagnosed Hackathons
• Resources, methods, and technologies to facilitate collaborative diagnosis

A panel discussion and interactive Q & A with thought leaders in genomics and genetics revenue researchers and advocates. Hosted by Kira Dineen, Dr. Colleen Campbell, Dr. Eric Green, Brian Reys, and Marianne Olson discuss:

• Demonstrating the direct and downstream benefits of multiple genetic subspecialties
• Navigating the challenges of funding and reimbursement in light of evolving billing codes
• How to build strong business cases

A panel discussion and interactive Q & A with genetic counseling directors, healthcare consultants, and business case experts. Hosted by Kira Dineen.

Dr. Colleen Campbell, Megan Trinkle-Knotts, and Andrea Spencer discuss:

1. Where to begin: connections and resources to get started
2. How to craft compelling narratives
3. The numbers behind the story: backing up cases with data
4. Best practices for building strong business cases

Resources:

• NSGC Cancer Genetics Business Case Toolkit
• An Introduction to the Genetic Counseling Business Case Experience: Learnings from NSGC’s First Business Case Summit

A panel discussion and interactive Q & A with the strategists, developers, and researchers behind patient matchmaking initiatives. Hosted by Kira Dineen.

Dr. Nara Sobreira, Matthew Osmond, and Dr. Orion Buske discuss:

1. Patient matchmaking as a driver of diagnosis
2. The technology, interoperability, and structured data powering matchmaking platforms
3. The future of matchmaking and international collaboration

Learn more about the Variant Level Matching Network.

Learn more about the Matchmaker Exchange.